ClinVar Miner

List of variants reported as pathogenic for Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_013254.4(TBK1):c.1070G>A (p.Arg357Gln) rs758357594 0.00001
NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter) rs142030898 0.00001
NM_013254.4(TBK1):c.421dup (p.Ile141fs) rs1565814492 0.00001
NM_013254.4(TBK1):c.992+1G>A rs1341055534 0.00001
NC_000012.11:g.(?_64849651)_(64854129_?)del
NC_000012.11:g.(?_64849651)_(64895161_?)del
NC_000012.11:g.(?_64875602)_(64879817_?)del
NC_000012.12:g.64496949del
NM_013254.4(TBK1):c.101T>G (p.Leu34Ter) rs2539482429
NM_013254.4(TBK1):c.1069C>T (p.Arg357Ter) rs1328949478
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter) rs765106259
NM_013254.4(TBK1):c.1234del (p.Ala412fs) rs2539519111
NM_013254.4(TBK1):c.1272del (p.Cys423_Tyr424insTer) rs2040816609
NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter) rs2539520026
NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter) rs769588220
NM_013254.4(TBK1):c.1335G>A (p.Trp445Ter) rs2136079548
NM_013254.4(TBK1):c.1340+1G>A rs767898276
NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs) rs876657404
NM_013254.4(TBK1):c.1382dup (p.Thr462fs) rs1178717934
NM_013254.4(TBK1):c.1385_1388del (p.Thr462fs) rs1476919390
NM_013254.4(TBK1):c.1387_1388del (p.Glu463fs) rs1555204731
NM_013254.4(TBK1):c.1496C>G (p.Ser499Ter) rs1280163869
NM_013254.4(TBK1):c.1638_1641del (p.Asp546fs) rs2539534664
NM_013254.4(TBK1):c.1740del (p.Glu580fs) rs2136087722
NM_013254.4(TBK1):c.1770_1771del (p.Tyr591fs) rs2040932099
NM_013254.4(TBK1):c.1832_1833insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGTATGAGGC (p.Ala611_Phe612insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysLysValTer)
NM_013254.4(TBK1):c.1846_1849del (p.Ser616fs) rs2136088227
NM_013254.4(TBK1):c.184_187del (p.Leu62fs)
NM_013254.4(TBK1):c.1917del (p.Asp639fs) rs2539537514
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013254.4(TBK1):c.1934C>G (p.Ser645Ter) rs2136088420
NM_013254.4(TBK1):c.1956del (p.Asn652fs) rs2539537579
NM_013254.4(TBK1):c.1972_1973del (p.Leu658fs) rs2136088934
NM_013254.4(TBK1):c.300_309del (p.Ser102fs) rs2539489004
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter) rs757203783
NM_013254.4(TBK1):c.4C>T (p.Gln2Ter) rs1555201919
NM_013254.4(TBK1):c.519del (p.Tyr174fs) rs2539493394
NM_013254.4(TBK1):c.701+1G>A rs1592362719
NM_013254.4(TBK1):c.701+2T>G rs2539503647
NM_013254.4(TBK1):c.722del (p.Lys241fs) rs2539510971
NM_013254.4(TBK1):c.72dup (p.Arg25fs) rs1279619378
NM_013254.4(TBK1):c.748C>T (p.Gln250Ter) rs2539511036
NM_013254.4(TBK1):c.889C>T (p.Gln297Ter)
NM_013254.4(TBK1):c.922C>T (p.Arg308Ter) rs1284582102
NM_013254.4(TBK1):c.935dup (p.His312fs)
NM_013254.4(TBK1):c.944C>A (p.Ser315Ter) rs369620088

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